Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794727794
rs794727794
SGCE ; CASD1
C 0.700 CausalMutation CLINVAR A patient with genetically confirmed myoclonus-dystonia responded to anticholinergic treatment and improved spontaneously. 22259621

2011
dbSNP: rs794727794
rs794727794
SGCE ; CASD1
C 0.700 CausalMutation CLINVAR Myoclonus-dystonia: significance of large SGCE deletions. 18205193

2008
dbSNP: rs794727794
rs794727794
SGCE ; CASD1
C 0.700 CausalMutation CLINVAR Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. 17296918

2007